Concepedia

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: unusual clinical associations and novel claudin16 mutation in an Egyptian family

Mohammad Al-Haggar, Ashraf Bakr, Toshihiro Tajima, Kenji Fujieda, Ayman Hammad, Othman E. Soliman, Ahmad Darwish, Afaf Alsaid, Sohier Yahia, Dina Abdel-Hady

Clinical and Experimental Nephrology · 2009 · 12 citations · 16 references

DOI

Concepts

References

16

Basic local alignment search tool

Stephen F. Altschul, Warren Gish, Webb Miller et al. · Journal of Molecular Biology · 1990 · 94.5K citations

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Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion

Johan T. den Dunnen, Stylianos E. Antonarakis · Human Mutation · 2000 · 1.8K citations · Full text

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Paracellin-1, a Renal Tight Junction Protein Required for Paracellular Mg <sup>2+</sup> Resorption

David B. Simon, Yin Lu, Keith A. Choate et al. · Science · 1999 · 1.1K citations

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Claudin-16 and claudin-19 interact and form a cation-selective tight junction complex

Jianghui Hou, Aparna Renigunta, Martin Konrad et al. · Journal of Clinical Investigation · 2008 · 333 citations · Full text

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Novel Paracellin-1 Mutations in 25 Families with Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis

Stefanie Weber, Linda Schneider, Melanie Peters et al. · Journal of the American Society of Nephrology · 2001 · 271 citations

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